Laura K Conlin
Laura K Conlin
Assistant Professor, Department of Pathology and Laboratory Medicine, University of Pennsylvania
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Cited by
Cited by
Natural variation in human gene expression assessed in lymphoblastoid cells
VG Cheung, LK Conlin, TM Weber, M Arcaro, KY Jen, M Morley, ...
Nature genetics 33 (3), 422-425, 2003
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium
LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ...
The American Journal of Human Genetics 98 (6), 1067-1076, 2016
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
LK Conlin, BD Thiel, CG Bonnemann, L Medne, LM Ernst, EH Zackai, ...
Human molecular genetics 19 (7), 1263-1275, 2010
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
TH Shaikh, X Gai, JC Perin, JT Glessner, H Xie, K Murphy, R O'Hara, ...
Genome research 19 (9), 1682-1690, 2009
Return of genomic results to research participants: the floor, the ceiling, and the choices in between
GP Jarvik, LM Amendola, JS Berg, K Brothers, EW Clayton, W Chung, ...
The American Journal of Human Genetics 94 (6), 818-826, 2014
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
LM Amendola, MO Dorschner, PD Robertson, JS Salama, R Hart, ...
Genome research 25 (3), 305-315, 2015
Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine
RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ...
The American Journal of Human Genetics 98 (6), 1051-1066, 2016
Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations
HM Kearney, JB Kearney, LK Conlin
Clinics in laboratory medicine 31 (4), 595-613, 2011
Mechanisms of ring chromosome formation, ring instability and clinical consequences
RS Guilherme, VF Ayres Meloni, CA Kim, R Pellegrino, SS Takeno, ...
BMC medical genetics 12 (1), 1-7, 2011
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
MR Hart, BB Biesecker, CL Blout, KD Christensen, LM Amendola, ...
Genetics in Medicine 21 (5), 1100-1110, 2019
Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
LJ Francey, LK Conlin, HE Kadesch, D Clark, D Berrodin, Y Sun, ...
American journal of medical genetics Part A 158 (2), 298-308, 2012
The natural osmolyte trehalose is a positive regulator of the heat-induced activity of yeast heat shock transcription factor
LK Conlin, HCM Nelson
Molecular and cellular biology 27 (4), 1505-1515, 2007
Interstitial microduplication of Xp22. 31: Causative of intellectual disability or benign copy number variant?
F Li, Y Shen, U Köhler, FH Sharkey, D Menon, L Coulleaux, V Malan, ...
European journal of medical genetics 53 (2), 93-99, 2010
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum
Q Li, JL Brodsky, LK Conlin, B Pawel, AC Glatz, RI Gafni, L Schurgers, ...
Journal of Investigative Dermatology 134 (3), 658-665, 2014
Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy
JM Kalish, LK Conlin, TR Bhatti, HA Dubbs, MC Harris, K Izumi, ...
American journal of medical genetics Part A 161 (8), 1929-1939, 2013
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients
LK Conlin, W Kramer, AL Hutchinson, X Li, H Riethman, H Hakonarson, ...
Journal of medical genetics 48 (1), 1-9, 2011
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
S Mulchandani, EJ Bhoj, M Luo, N Powell-Hamilton, K Jenny, KW Gripp, ...
Genetics in Medicine 18 (4), 309-315, 2016
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome
JM Kalish, KE Boodhansingh, TR Bhatti, A Ganguly, LK Conlin, SA Becker, ...
Journal of medical genetics 53 (1), 53-61, 2016
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
BM Kamath, BD Thiel, X Gai, LK Conlin, PS Munoz, J Glessner, D Clark, ...
Human mutation 30 (3), 371-378, 2009
Mosaicism and clinical genetics
NB Spinner, LK Conlin
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
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